Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan.
Department of Neurology and Strokology, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki City 852-8501, Japan.
Medicina (Kaunas). 2024 Oct 22;60(11):1730. doi: 10.3390/medicina60111730.
: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by the formation of intranuclear inclusions in cells. Adult-type NIID usually develops in elderly patients with various clinical manifestations and is sometimes accompanied by ocular symptoms. A case of adult-onset NIID with early and unique manifestations, including a progressive corneal defect and retinal changes, which are concerning at a young age, is reported. : A 29-year-old woman with adult sporadic NIID presented to our department with a progressive corneal disorder. Her neurological symptoms started at the age of 22 years, and she was diagnosed with NIID by skin biopsy and genetic testing. Ocular examination revealed bilateral corneal superficial punctate keratitis, right corneal opacity, decreased vision, nocturnal lagophthalmos, and early retinal changes. Corneal nerve fiber atrophy was detected by in vivo confocal microscopy. With a Cochet-Bonnet aesthesiometer, the progression of NIID and decreased corneal sensation were confirmed. Findings consistent with neurotrophic keratitis and keratoconjunctivitis due to nocturnal lagophthalmos were both suggested as being complications of her underlying NIID. Treatment with punctal plugs, sodium hyaluronate eye drops, diquafosol sodium eye drops, systemic and local antivirals, and local steroid medications resulted in the gradual improvement in the irregularity and opacity of the epithelium. NIID may lead to neurotrophic keratopathy due to impairment of the corneal sensory nerves. Nocturnal lagophthalmos is a remarkable finding in a case of NIID. The findings in the present case highlight the complex and multifaceted nature of NIID, with neurological and ocular manifestations requiring a multidisciplinary approach to management.
神经核内包涵体病（NIID）是一种进行性神经退行性疾病，其特征是细胞内出现核内包涵体。成人型 NIID 通常发生在老年患者中，具有多种临床表现，有时伴有眼部症状。本文报道了一例以角膜渐进性病变和视网膜改变为早期且独特表现的成人起病 NIID 病例，这些表现令人担忧。
一位 29 岁的女性，患有散发性成人型 NIID，因进行性角膜疾病就诊于我科。她的神经系统症状始于 22 岁，通过皮肤活检和基因检测诊断为 NIID。眼部检查显示双侧角膜浅层点状角膜炎、右眼角膜混浊、视力下降、夜间睑裂闭合不全和早期视网膜改变。活体共聚焦显微镜检查发现角膜神经纤维萎缩。使用 Cochet-Bonnet 触觉计，确认了 NIID 的进展和角膜感觉减退。神经源性角膜溃疡和由于夜间睑裂闭合不全导致的角结膜炎的发现均提示是其潜在 NIID 的并发症。通过使用泪点塞、透明质酸钠滴眼液、地夸磷索钠滴眼液、全身和局部抗病毒药物以及局部皮质类固醇药物治疗，上皮不规则和混浊逐渐改善。NIID 可能由于角膜感觉神经受损而导致神经营养性角膜病变。夜间睑裂闭合不全是 NIID 的一个显著发现。本病例的发现强调了 NIID 的复杂性和多面性，需要采用多学科方法来管理神经和眼部表现。
